| Gene |
Chromosome |
Location |
Syndrome |
Category |
| ICR1 | 11 | p15.5 | BECKWITH-WIEDEMANN SYNDROME | Autism spectrum | |
| IDDAS | 2 | q24.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 1 | Autism spectrum | |
| IDDECA | 15 | q22.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 2 | Autism spectrum | |
| IDDFBA | 2 | p16.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 3 | Autism spectrum | |
| IDDFSDA | 8 | q21.3 | INTELLECTUAL DEVELOPMENTAL DISORDER 4 | Autism spectrum | |
| IDDHDF | 14 | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 5 | Autism spectrum | |
| IDDNPF | 1 | p36.23 | INTELLECTUAL DEVELOPMENTAL DISORDER 6 | Autism spectrum | |
| IDDSFTA | 14 | q32.2 | INTELLECTUAL DEVELOPMENTAL DISORDER 7 | Autism spectrum | |
| IDH2 | 15 | q26.1 | 2-hydroxyglutaric aciduria | Ataxia spectrum | |
| IECEE1 | 4 | q24 | EPILEPTIC ENCEPHALOPATHY INFANTILE OR EARLY CHILDHOOD 1 | Autism spectrum | |
| IER3IP1 | 18 | q12 | Microcephaly epilepsy and diabetes syndrome | Microcephaly | |
| IFIH1 | 2 | q24.2 | Aicardi-Goutieres Syndrome | Autism spectrum | |
| IFNG | 12 | q15 | TUBEROUS SCLEROSIS 2 | Autism spectrum | |
| IFT140 | 16 | p13.3 | Mainzer-Saldino syndrome | Ataxia spectrum | |
| IFT172 | 2 | p23.3 | Short-rib thoracic dysplasia 13 | Cleft lip / cleft palate | |
| IFT74 | 9 | p21.2 | ALS | ALS - amyotrophic lateral sclerosis | |
| IGF2BP2 | 3 | q27.2 | Gestational diabetes | Diabetes | |
| IGFALS | 16 | p13.3 | ALS | ALS - amyotrophic lateral sclerosis | |
| IGFBP7 | 4 | q12 | Familial retinal arterial macroaneurysm | Tachycardia (>100 beats/minute) | |
| IGHM | 14 | q32.33 | ALS | ALS - amyotrophic lateral sclerosis | |
| IKBKG | 23 | q28 | Incontinentia pigmenti | Alopecia | |
| IKZF3 | 17 | q12-q21.1 | Rheumatoid arthritis | Arthritis | |
| IL10 | 1 | q32.1 | Crohn Disease | Irritable Bowel Disorders | |
| IL10RA | 11 | q23.3 | Ulcerative colitis | Irritable Bowel Disorders | |
| IL10RB | 21 | q22.11 | Ulcerative colitis | Irritable Bowel Disorders | |
| IL12B | 5 | q33.3 | Crohn Disease | Irritable Bowel Disorders | |
| IL12B | 5 | q33.3 | Asthma-related traits (ASRT) | Asthma | |
| IL13 | 5 | q31 | Asthma-related traits (ASRT) | Asthma | |
| IL17A | 6 | p12.2 | INTERLEUKIN 17A | Autism spectrum | |
| IL1RAPL1 | 23 | P21.2-3 | INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1 | Autism spectrum | |
| IL2 | 4 | q27 | Ulcerative colitis | Irritable Bowel Disorders | |
| IL2 | 4 | q27 | Rheumatoid arthritis | Arthritis | |
| IL21 | 4 | q27 | Rheumatoid arthritis | Arthritis | |
| IL23R | 1 | p31.3 | Ulcerative colitis | Irritable Bowel Disorders | |
| IL23R | 1 | p31.3 | Crohn Disease | Irritable Bowel Disorders | |
| IL2RA | 10 | p15.1 | Rheumatoid arthritis | Arthritis | |
| IL2RA | 10 | p15.1 | Type 1 Diabetes | Diabetes | |
| IL2RA | 10 | p15.1 | Graves disease - overactive thyroid | Hyperthyroidism | |
| IL2RB | 22 | q12.3 | Rheumatoid arthritis | Arthritis | |
| IL4R | 16 | p11.2-12.1 | Asthma-related traits (ASRT) | Asthma | |
| IL6 | 7 | p15.3 | Type 1 Diabetes | Diabetes | |
| IL6R | 1 | q21.3 | Rheumatoid arthritis | Arthritis | |
| IL6ST | 5 | q11.2 | Rheumatoid arthritis | Arthritis | |
| IL7R | 5 | p13.2 | Omenn syndrome | Alopecia | |
| IMPDH1 | 7 | q32.1 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| INS | 11 | p15.5 | Permanent neonatal diabetes mellitus | Diabetes | |
| INS | 11 | p15.5 | Type 1 Diabetes | Diabetes | |
| INSR | 19 | p13.2 | Rabson-Mendenhall syndrome | Diabetes | |
| INTLQ2 | 6 | p25.3-p22. | INTELLIGENCE QUANTITATIVE TRAIT LOCUS 2 | Autism spectrum | |
| IQCB1 | 3 | q13.33 | Leber congenital amaurosis | Photophobia - sensitivity to light | |
| IQSEC2 | 23 | p11.22 | Mental retardation X-linked 1 | Autism spectrum | |
| IRAK1 | 23 | q28 | Rheumatoid arthritis | Arthritis | |
| IRAK3 | 12 | q14.3 | Asthma-related traits 5 (ASRT5) | Asthma | |
| IRF5 | 7 | q32.1 | Rheumatoid arthritis | Arthritis | |
| IRF5 | 7 | q32.1 | Ulcerative colitis | Irritable Bowel Disorders | |
| IRF6 | 1 | q32.3-q41 | Van der Woude syndrome | Cleft lip / cleft palate | |
| IRF8 | 16 | q24.1 | Rheumatoid arthritis | Arthritis | |
| IRGM | 5 | q33.1 | Crohn Disease | Irritable Bowel Disorders | |
| IRS1 | 2 | q36.3 | Gestational diabetes | Diabetes | |
| ISCU | 12 | q24.1 | Hereditary myopathy with lactic acidosis | Tachycardia (>100 beats/minute) | |
| ISPD | 7 | p21.2 | Walker-Warburg syndrome | Microphthalmia | |
| ITGA6 | 2 | q31.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
| ITGB3 | 17 | q21.32 | INTEGRIN BETA-3 | Autism spectrum | |
| ITGB4 | 17 | q25.1 | EB-PA Epidermolysis bullosa with pyloric atresia | Alopecia | |
| ITM2B | 13 | q14.2 | hereditary cerebral amyloid angiopathy | Alzheimer Syndrome | |
| ITPR1 | 3 | p26.1 | Gillespie syndrome | Ataxia spectrum | |
| ITPR1 | 3 | p26.1 | Spinocerebellar ataxia type 29 | Ataxia spectrum | |
| ITPR1 | 3 | p26.1 | Spinocerebellar ataxia type 15 | Ataxia spectrum | |
| ITPR3 | 6 | p21.31 | Type 1 Diabetes | Diabetes | |
| IYD | 6 | q25.1 | Congenital hypothyroidism | Hypothyroidism | |